Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim.

Afiliación

Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Rodenhiser DI; Departments of Pediatrics, Biochemistry and Oncology, Western University and Children's Health Research Institute, London, ON N6A5C1, Canada.
Schenkel LC; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada.
Lin H; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Skinner C; Greenwood Genetics Center, Greenwood, SC 29646, USA.
Ainsworth P; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Paré G; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S4L8, Canada.
Hood RL; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H8M5, Canada.
Bulman DE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H5B2, Canada.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H5B2, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H5B2, Canada.
Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada.
Schwartz C; Greenwood Genetics Center, Greenwood, SC 29646, USA.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

Am J Hum Genet ; 102(1): 156-174, 2018 01 04.

Article en En | MEDLINE | ID: mdl-29304373

Asunto(s)

Metilación de ADN/genética; Genoma Humano; Mutación/genética; Trastornos del Neurodesarrollo/diagnóstico; Trastornos del Neurodesarrollo/genética; Regiones no Traducidas 5'/genética; Estudios de Casos y Controles; Niño; Preescolar; Estudios de Cohortes; Demografía; Epigénesis Genética; Humanos; Modelos Genéticos; Trastornos del Neurodesarrollo/sangre; Probabilidad; Reproducibilidad de los Resultados; Adulto Joven

Palabras clave

ATRX syndrome; CHARGE syndrome; Claes-Jensen syndrome; Floating Harbor syndrome; Kabuki syndrome; Sotos syndrome; epigenomic machinery; machine learning; molecular diagnosis; pediatric developmental disorders

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Metilación de ADN / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Humans Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Canadá

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